ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.31181T>C (p.Ile10394Thr)

gnomAD frequency: 0.00002  dbSNP: rs1219872673
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000507262 SCV000605497 uncertain significance not specified 2017-03-02 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002506239 SCV002817036 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 2021-10-29 criteria provided, single submitter clinical testing

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